Results 61 to 70 of about 6,638 (157)

Plasma Lyso-Gb3 quantification.

, 2018
Plasma Lyso-Gb3 quantification.
B. Beaton (5066303), D. A. Hughes (5066294), U. Ramaswami (5066297), A. S. Thomas (5066300), H. Ebrahim (5066309), P. Elliott (1293702), M. Reed (4855099), A. B. Mehta (5066306), L. Lavalle (5066291)   +8 more
core   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment. This study aimed to identify all treatable IEMs
Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D. van Karnebeek   +9 more
wiley   +1 more source

Impaired plasma membrane calcium ATPase activity and mitochondrial dysfunction contribute to calcium dysregulation in Fabry disease-related painful neuropathy

Neurobiology of Disease
Neuropathic pain is a hallmark symptom in Fabry disease (FD), a hereditary X-linked lysosomal storage disorder caused by a reduced activity of α-galactosidase A (α-Gal A).
Francesco Formaggio, Asia Pizzi, Cecilia Delprete, Davide Pasqualini, Isabella Mataloni, Roberto Rimondini, Ludovica Campolongo, Vincenzo Donadio, Anna Maria Ghelli, Rocco Liguori, Marco Caprini   +10 more
doaj   +1 more source

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

BMC Nephrology, 2020
Background Fabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylceramide (GB3) in a variety of cell ...
Andrew Mallett, Phoebe Kearey, Anne Cameron, Helen Healy, Charles Denaro, Mark Thomas, Vincent W. Lee, Samantha Stark, Maria Fuller, Wendy E. Hoy   +9 more
doaj   +1 more source

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Fabry disease is an X‐linked lysosomal disease caused by variants in the GLA gene. Although Fabry disease is X‐linked, GLA gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X‐linked recessive disease.
Alison C. Leslie, Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. [PDF]

PLoS Genetics, 2013
Fabry disease (FD) is an X-linked hereditary defect of glycosphingolipid storage caused by mutations in the gene encoding the lysosomal hydrolase α-galactosidase A (GLA, α-gal A).
Jan Lukas, Anne-Katrin Giese, Arseni Markoff, Ulrike Grittner, Ed Kolodny, Hermann Mascher, Karl J Lackner, Wolfgang Meyer, Phillip Wree, Viatcheslav Saviouk, Arndt Rolfs   +10 more
doaj   +1 more source

The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient

Clinical Case Reports, Volume 12, Issue 10, October 2024.
Key Clinical Message Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns. Their co‐occurrence is extremely rare, never been reported before.
Yasmine Elsherif, Ismail A. Ibrahim, Omar Elsherif, Hana J. Abukhadijah   +3 more
wiley   +1 more source

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

Arquivos Brasileiros de Cardiologia
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of ...
Ândrea Virgínia Chaves-Markman, Manuel Markman, Eveline Barros Calado, Ricardo Flores Pires, Marcelo Antônio Oliveira Santos-Veloso, Catarina Maria Fonseca Pereira, Andréa Bezerra de Melo da Silveira Lordsleem, Sandro Gonçalves de Lima, Brivaldo Markman Filho, Dinaldo Cavalcanti de Oliveira   +9 more
doaj   +1 more source

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2020
Enzyme replacement therapy (ERT) for Fabry disease (deficiency of α-galactosidase A, α-Gal) with recombinant α-Gals (agalsidase alfa and agalsidase beta) is widely available and improves some of the clinical manifestations and biochemical findings ...
Takahiro Tsukimura, Yuya Tayama, Tomoko Shiga, Kanako Hirai, Tadayasu Togawa, Hitoshi Sakuraba   +5 more
doaj   +1 more source

Effect of SB525334 on the expression of EMT markers induced by Gb3 and lyso-Gb3.

, 2015
(A) Immunoblotting analysis of expression of EMT markers induced by Gb3 in HK2 cells with or without SB525334 (30 μM and 45 μM, respectively). (B) Immunoblotting analysis of expression of EMT markers induced by lyso-Gb3 in HK2 cells with or without ...
Sung-Chul Jung (785337), Hae-Young Park (785336), Joo-Won Park (785335), Namhee Jung (589929), Yeo Jin Jeon (785334)   +4 more
core   +1 more source